{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828363454",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "A",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000438",
      "geneNCBI_id": 249,
      "geneSymbol": "ALPL",
      "hgvs": [
        "NP_001356733.1:p.Ala468Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA338882123",
          "hgvs": "NM_001369804.2:c.1402G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709708"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1393519[alleleid]",
        "alleleId": 1393519,
        "preferredName": "NM_000478.6(ALPL):c.1402G>A (p.Ala468Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1457578",
        "RCV": [
          "RCV001972666",
          "RCV003772952"
        ],
        "variationId": 1457578
      }
    ]
  },
  "type": "amino-acid"
}